Varaico: Literature-Extracted Genetic Variants

Gene:MC3R
Variant:p.A62S

MC3R

234 papers

RefSeq Summary

This gene encodes a G-protein-coupled receptor for melanocyte-stimulating hormone and adrenocorticotropic hormone that is expressed in tissues other than the adrenal cortex and melanocytes. This gene ...

Pfam Domains

7tm_1aa 55–299UCSC7 transmembrane receptor (rhodopsin family)

Gene Aliases

HGNC Name

melanocortin 3 receptor

HGNC Alias Symbol

MC3

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_019888.3
p.A62S
c.184G>T
Surrounding Variants
1 paper
NM_019888.3
p.A62P
c.184G>C
1 paper
NM_019888.3
p.L61Q
c.182T>A
1 paper
NM_019888.3
p.V63M
c.187G>A
1 paper
NM_019888.3
p.V59ins1
c.176_177insGGG
1 paper
NM_019888.3
p.L58L
c.174G>A
1 paper
NM_019888.3
p.L58L
c.172C>T
1 paper
NM_019888.3
p.I57I
c.171C>T
1 paper
NM_019888.3
p.I57delFs
c.171delC
1 paper
NM_019888.3
p.G67S
c.199G>A
1 paper
NM_019888.3
p.G67G
c.201C>G
1 paper
NM_019888.3
p.L69P
c.206T>C
1 paper
NM_019888.3
p.L69R
c.206T>G
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